Linked Data
ClinVar Variation Id:
3001095
ClinVar RCV Id:
RCV003852238
dbSNP Id:
rs183668052
ExAC:
8:38003465 C / T
gnomAD v2:
8-38003465-C-T
gnomAD v3:
8-38145947-C-T
gnomAD v4:
8-38145947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145947C>T , CM000670.2:g.38145947C>T | GRCh38 |
| NC_000008.10:g.38003465C>T , CM000670.1:g.38003465C>T | GRCh37 |
| NC_000008.9:g.38122622C>T | NCBI36 |
| NG_011827.1:g.10136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.650+16G>A MANE Select | ENSP00000276449.3:n.650+16G>A | |
| ENST00000276449.8:c.650+16G>A | ENSP00000276449.3:n.650+16G>A | |
| ENST00000520114.1:n.1153G>A | ||
| ENST00000522050.1:c.586+16G>A | ||
| NM_000349.2:c.650+16G>A | NP_000340.2:n.650+16G>A | |
| XM_006716392.1:c.650+16G>A | XP_006716455.1:n.650+16G>A | |
| NM_000349.3:c.650+16G>A MANE Select | NP_000340.2:n.650+16G>A |